Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EVA1C

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000300255
Start	32514970:32514970(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1106A>G
AA Mutation	p.Glu369Gly(p.E369G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000300255
Start	32515036:32515036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779127738
CDS Mutation	c.1172C>T
AA Mutation	p.Ser391Leu(p.S391L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000300255
Start	32457691:32457691(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.452A>G
AA Mutation	p.Tyr151Cys(p.Y151C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000300255
Start	32467789:32467789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.575G>A
AA Mutation	p.Gly192Asp(p.G192D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300255
Start	32453325:32453325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.174A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000300255
Start	32514939:32514939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1075G>T
AA Mutation	p.Glu359Ter(p.E359*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> EVA1C

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000300255
Start	32515092:32515092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146340457
CDS Mutation	c.1228G>A
AA Mutation	p.Ala410Thr(p.A410T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000300255
Start	32467795:32467795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.581G>T
AA Mutation	p.Arg194Met(p.R194M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300255
Start	32503951:32503951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.885G>A
Mutation Classification	Silent
Feature Type	Transcript